Variant report

Variant	rs315943
Chromosome Location	chr2:113894338-113894339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113837325..113838487-chr2:113894163..113895181,5	K562	blood:
2	chr2:113890813..113893082-chr2:113894067..113895922,2	MCF-7	breast:
3	chr2:113894259..113895100-chr2:113949784..113950509,3	MCF-7	breast:
4	chr2:113894199..113895178-chr2:113956349..113957482,7	MCF-7	breast:
5	chr2:113894207..113895192-chr2:113984604..113985554,2	MCF-7	breast:
6	chr2:113894243..113895050-chr2:113956611..113957124,2	MCF-7	breast:
7	chr2:113888649..113891490-chr2:113893231..113895464,3	MCF-7	breast:
8	chr2:113837374..113838246-chr2:113894254..113895056,3	MCF-7	breast:
9	chr2:113893764..113901636-chr2:113913546..113916556,11	MCF-7	breast:
10	chr2:113894223..113895276-chr2:113957564..113958721,4	MCF-7	breast:
11	chr2:113892912..113896093-chr2:113955457..113958866,4	MCF-7	breast:
12	chr2:113893960..113897409-chr2:113953910..113957318,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11123166	0.81[EUR][1000 genomes]
rs11885498	0.81[CEU][hapmap];0.90[CHB][hapmap];0.85[GIH][hapmap];0.81[EUR][1000 genomes]
rs1374281	0.85[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes]
rs2172190	0.82[EUR][1000 genomes]
rs2264097	0.81[EUR][1000 genomes]
rs2264098	0.82[EUR][1000 genomes]
rs2902452	0.89[CEU][hapmap];0.90[CHB][hapmap];0.89[GIH][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs315949	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs315956	0.82[EUR][1000 genomes]
rs4251961	1.00[JPT][hapmap]
rs62161285	0.81[EUR][1000 genomes]
rs6750555	0.81[EUR][1000 genomes]
rs6754298	0.91[CEU][hapmap];0.89[CHB][hapmap];0.80[EUR][1000 genomes]
rs895496	0.85[CEU][hapmap];0.90[CHB][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs315943	DNAJC11	trans	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113876000-113896200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:113885800-113896200	Weak transcription	Placenta	Placenta
3	chr2:113889600-113895000	Weak transcription	Stomach Mucosa	stomach
4	chr2:113890400-113894800	Enhancers	Fetal Thymus	thymus
5	chr2:113890800-113895000	Weak transcription	Spleen	Spleen
6	chr2:113891600-113896200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:113891600-113896200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:113891600-113896200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:113891800-113895800	Weak transcription	Fetal Intestine Small	intestine
10	chr2:113891800-113896200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:113892000-113894600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:113892000-113895800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:113892000-113895800	Weak transcription	Fetal Intestine Large	intestine
14	chr2:113892000-113896000	Weak transcription	HMEC	breast
15	chr2:113892000-113896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:113892000-113896200	Weak transcription	NHEK	skin
17	chr2:113892200-113896200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:113892200-113896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:113892200-113896200	Weak transcription	Liver	Liver
20	chr2:113892200-113896200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:113892200-113896600	Weak transcription	Esophagus	oesophagus
22	chr2:113893200-113895800	Weak transcription	Primary T cells from cord blood	blood
23	chr2:113893200-113896200	Weak transcription	Thymus	Thymus
24	chr2:113894000-113896200	Enhancers	HepG2	liver
25	chr2:113894200-113895000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr2:113894200-113895000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:113894200-113897200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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